Research

Research

New scientific knowledge offers hope for the successful treatment and prevention of adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). It is urgent that we invest in research that will advance new therapies and eventually find a cure. Throughout the years, we’ve supported scientific research projects spanning the world on the cutting edge of myelin research.

All research proposals are first reviewed by our Scientific Advisory Committee. If approved, the proposal then goes to a vote by our Board of Directors. If you are a researcher and would like information on how to apply for research funding, please contact us. The following is a list of some research projects that we have supported over the last 25 years.

In Vivo Gene Therapy in AMNDr. Florian Eichler | Harvard School of Medicine

In partnership with the Cure ALD Foundation, we granted $50,000 to Dr. Florian Eichler’s pilot study of gene therapy in adrenomyeloneuropathy (AMN). Dr. Eichler and his team have established an AMN animal model proof of concept showing a gene therapy approach could provide benefit where no treatment is currently available. Currently, when young men with adrenoleukodystrophy (ALD) begin showing adult-onset signs of AMN, they slowly lose their ability to walk. This pilot will help move Dr. Eichler’s research program forward towards human studies. Learn more…

In late 2015, we granted $25,000 to Dr. Gerald Raymond’s research laboratory at the University of Minnesota which focuses on the study of X-linked adrenoleukodystrophy (ALD) and other neurogenetic conditions. In collaboration with the Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program, the Center for Orphan Drug Research, the Center for Magnetic Resonance Research, and others, Dr. Raymond’s lab is developing new tools to diagnose, manage, and treat all aspects of ALD and improve the lives of affected boys, men, and women with this condition. Learn more…

Dr. Lund and his lab aim to find new and novel proteins found in the CSF of boys with cALD that are greater in abundance than control samples. Based on preliminary data, they anticipate that the number of protein hits to be in the 300-5– range. A large number of these proteins will show differential expression between cALD and control samples. The approach will allow for the identification of new and novel proteins which could be predictors of disease status, disease progression, or outcome after therapy (which currently involves hematopoietic cell transplant) when combined with clinical statistics in our database. Identified proteins may also become robust biomarkers for other conditions such as adult cerebral ALD or AMN.

One of the earliest research projects we funded was the transplantation of one million myelin-forming cells into the brain of a Multiple Sclerosis patient, a first in medical history. The trial was led by Dr. Vollmer and was financed entirely by The Myelin Project. This first patient recovered well from the procedure. Although no clinical improvement observed (probably because of the small number of cells transplanted), neither did it worsen. Thus the procedure itself was confirmed as safe. The first-ever attempt to transplant myelin-producing cells in the human CNS, the Yale trial showed the surgical procedure to be safe, with none of the patients suffering adverse side effects from the transplantation. This result was largely unexpected-many researchers believed that operating in the MS brain was too risky and that it would exacerbate the subjects’ condition. But that did not occur. As mentions of the trial filter into journal articles, several researchers, both within and outside of The Myelin Project Work Group, have taken note of the safety of the transplantation procedure. Now that safety is no longer an issue, other researchers are likely to replicate the transplantation trial with Schwann cells or other cell types.

This lab generated a mouse model of human ALD with a null mutation in the Abcd1 gene. Similar to human ALD patients these mice display impaired peroxisomal beta-oxidation and accumulation of VLCFA in brain and adrenals. However, they lack neurological symptoms, and have a normal life-span. The data suggested that VLCFA accumulation by itself is insufficient to trigger demyelination or neurodegeneration in mice. Other environmental, genetic, and/or epigenetic factors may be involved in disease development. *Winners of The Myelin Project’s 2010 Augusto Odone New Investigator Award*

Moser’s focus is to develop a neonatal screening test for X-linked adrenoleukodystrophy (ALD) by using the newborn blood spot that is collected on all US babies at birth. In December 2008, together with the MD State Newborn Screening Laboratory, we started a pilot study screening for ALD in 5000 newborns born in the local Baltimore hospitals. Ann Moser received a bachelor’s degree in biochemistry in 1961 from Radcliffe College. During the time she was an undergraduate, she was a technician in Dr. Konrad Bloch’s laboratory at Harvard University. After working as a technician in laboratories in different hospitals, Moser joined the John F. Kennedy Institute (later Kennedy Krieger Institute) in 1976 as a senior technician. In 1982, she became an assistant in neurology. Since 1991, Moser has been working as a research associate in neurology. She is a co-director of the Peroxisomal Diseases Laboratory in the Hugo W. Moser Research Institute at the Kennedy Krieger Institute.

The core research area of this laboratory is myelin. Myelin is the insulator of axons and is essential for normal impulse transmission in the nervous system. We are interested in both the development of myelin in the central nervous system (CNS) and how myelin is targeted in acquired disorders of the CNS, in particular in multiple sclerosis (MS). To explore both development and disease of myelin, we use a variety of models, including animals with mutations in myelin genes (the myelin mutants), to study both the genetic control of myelin formation and maintenance and myelin repair. We are especially interested in cells that could be transplanted into the CNS to repair areas of myelin disease.

About 30 years ago, investigators began to think that cell therapies might be useful to treat loss of myelin caused by multiple sclerosis (MS). The disease has proved more complex, and tissue repair in the brain and spinal cord more challenging than we first thought. Many factors contribute to myelin and nervous tissue damage in MS. Cells capable of myelin repair are present in damaged areas but nonetheless do not seem to repair myelin. This might mean that simply adding more myelin-making cells to lesions won’t be enough to help in this disease. Professor Scolding is studying bone marrow derived stem cells. These have a very limited capacity for turning into myelin forming cells. But they seem to stimulate repair processes that are key to tissue regeneration in MS. A small safety study of these cells in six patients with chronic MS is nearing completion. The final report will be made when the data analysis is finished. Dr. Scolding has said, “We are grateful indeed to the Myelin Project for our funding, without which this trial would have proved very difficult to complete.”

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About Us

We are a 501(c)3 non-profit organization dedicated to improving the quality of life for those living with ALD & AMN through research, advocacy and family support.